Genetic Information Under HIPAA

While the final rule supplementing and modifying the Health Insurance Portability and Accountability Act (HIPAA) Privacy, Security, Breach Reporting and Enforcement Rules—78 Fed. Reg. 5565 (Jan. 25, 2013)—has been extensively reported on and analyzed, the section of the rule implementing the Genetic Information Nondiscrimination Act of 2008 (GINA) has not received nearly as much attention. This most likely results from the fact that while the non-GINA portions of the final rule will have an industry-wide impact, the section addressing GINA primarily affects health insurers. Because HIPAA includes employer-sponsored group health plans under the definition of insurers, employers that sponsor plans are also affected by the GINA amendments to the HIPAA Privacy Rule ("the GINA amendments"). In addition, the GINA amendments will have applicability beyond the insurance industry because they draw distinctions between permissible and impermissible uses of "genetic information" in connection with the diagnosis of a medical condition. The diagnosis of a medical condition is made by a healthcare provider and, as a result, the healthcare provider will have to determine whether genetic information was used in connection with a given diagnosis and, if so, how that information is required to be handled.

The Genetic Information Nondiscrimination Act

GINA has two primary components: an employment component that restricts employers from requesting, requiring or using genetic information; and a health insurance component that prohibits insurers from using such information in setting premiums and determining eligibility. The statute required the U.S. Department of Health and Human Services (HHS) to implement the health insurance component by promulgating regulations amending the HIPAA Privacy Rule to include genetic information within the definition of "health information." The GINA amendments were issued to fulfill this statutory mandate.

The GINA Amendments

The GINA amendments, which will become effective on March 26, 2013, implement the statutory prohibition on the use or disclosure of genetic information by a health plan for underwriting purposes. HHS chose to do this largely through the definitions of the key terms in the regulations. With one notable exception, the definition of "health plan" is largely unremarkable. Similarly, the definition of "underwriting purposes" is fairly straightforward. The definition of genetic information is somewhat more complicated.

1. "Health Plan"

Prior to the promulgation of the GINA amendments, the HIPAA Privacy Rule had defined health plan expansively to encompass virtually any plan that provides or pays for the cost of medical care, such as health maintenance organizations (HMOs); indemnity health insurers; and employer-sponsored group health plans. GINA required HHS to modify the HIPAA Privacy Rule to prohibit four specific types of entities—group health plans, health insurance issuers, health maintenance organizations and issuers of Medicare supplemental policies—from using genetic information for underwriting purposes. In its Notice of Proposed Rulemaking, HHS proposed to make the expansive pre-GINA HIPAA definition of health plan applicable to GINA.

The expansive definition of health plan in the proposed rule included long-term care insurance. Some rulemaking comments objected to this inclusion, contending (1) that HHS lacked the authority to include, within the definition of health plan applicable to GINA, plans not specifically mentioned in GINA; and (2) that applying the GINA prohibition to long-term care insurers would jeopardize their ability adequately to underwrite such policies, thus jeopardizing the viability of the long-term care insurance market.

Stating that it had the authority to include plans not mentioned in GINA, HHS opted to retain the existing broad definition of health plan, with the exception of long-term care policies. While HHS appeared to be unconvinced that the inclusion of long-term care policies within the definition of health plans would have an adverse impact on the market for such policies, it nevertheless exempted them because the agency did not have sufficient information on the issue.

In addition, the GINA amendments require health plans that perform underwriting to include in their Notice of Privacy Practices (NPP) a statement that they are prohibited from using or disclosing genetic information for underwriting purposes, as defined below.

2. "Underwriting Purposes"

The GINA amendments define "underwriting purposes" to mean anything related to the creation, renewal or replacement of a contract for health insurance benefits, such as determinations of eligibility; determinations of the cost of premiums; and determinations of the applicability of an exclusion for a preexisting condition.

The definition of "underwriting services" has had a direct impact on group health plans. Prior to the GINA amendments, group health plans were permitted to disclose summary health information to the plan sponsor for the purpose of obtaining quotes on premiums from health plans (e.g., HMOs) or for modifying, amending or terminating the group health plan. Because these activities fit squarely within the definition of underwriting purposes, the prohibition on the disclosure of genetic information is now applicable to group health plans.

However, in instances when an existing policy holder is seeking a benefit under a health plan, the determination of the medical appropriateness of the treatment by the plan is not an underwriting purpose, and genetic information may be used for this purpose.

3. "Genetic Information"

Genetic information is the third key term used in the GINA prohibition, and its most important, because its definition is the core element of the GINA amendments. The distinctions HHS has made regarding the types of information that are protected under the regulations, and the types of information that are not protected, are contained within the definition of genetic information. This definition is somewhat complex, however, because it relies on numerous terms that require their own definitions.

The GINA amendments define genetic information to mean (a) information about the "genetic tests" of an individual, the genetic tests of an individual's "family members" and information about the "manifestation" of a disease or disorder of an individual's family members (i.e., family medical history). Genetic information also includes information about any request for, or receipt of, "genetic services," as well as information about any participation in clinical research that includes genetic services.

An individual's family member is defined broadly to encompass dependents, up to "fourth-degree" blood relatives (i.e., great-grandparents) of either the individual or a dependent, and relatives by "affinity" (by marriage or adoption).

An individual's "dependent" is any person who is, or who may become, eligible for coverage under a group health plan because of that person's relationship to the individual.

The term "genetic services" means (1) a genetic test, (2) genetic counseling or (3) genetic education. A genetic test is an analysis of human DNA, RNA, chromosomes, proteins or metabolites that detects genotypes, mutations or chromosomal changes. The definition of genetic test, however, does not include an analysis of proteins or metabolites that is directly related to a "manifested" disease, disorder, or pathological condition.

A disease, disorder or pathological condition is manifested if it has been, or could reasonably be, diagnosed by a healthcare professional, with expertise in the appropriate field of medicine, on the basis of a physical examination. A disease, disorder or pathological condition is not "manifested," however, if the diagnosis is based principally on genetic information.

HHS used this distinction because genetic variants associated with diseases do not all have the same degree of predictive power for later development of the disease. In some instances, an individual may have a genetic variant associated with a particular disease and never develop the disease. In other instances, the presence of a genetic variant indicates that the individual will develop the disease—eventually. There may be no clinical symptoms of the disease for many decades after a positive test for the presence of the genetic variant. In this situation, the disease is not manifested by the presence of the genetic variant by itself, without any physical symptoms, even if it is certain that the individual will eventually develop the disease. HHS used the example of Huntington's disease to illustrate this point.

In this example, an individual's family member has been diagnosed with Huntington's disease, and a genetic test of the individual indicates the presence of the Huntington's disease gene variant. The individual subsequently consults a neurologist with expertise in Huntington's disease because the individual has begun to experience symptoms associated with the disease. In these circumstances, Huntington's disease is not manifested if a physical examination does not support a diagnosis of Huntington's disease. However, if a physician with expertise in Huntington's disease makes a diagnosis of the disease on the basis of a patient's symptoms, and uses genetic tests to confirm the diagnosis, the disease will be considered manifested, despite the use of genetic information.
HHS utilizes other examples of genetic diseases to illustrate the same point: A disease is manifested if the diagnosis is based on a physical examination, even if genetic tests are used to confirm the diagnosis. A disease is not manifested if it was diagnosed principally on the basis of genetic information.

HHS utilizes other examples of genetic diseases to illustrate the same point: A disease is manifested if the diagnosis is based on a physical examination, even if genetic tests are used to confirm the diagnosis. A disease is not manifested if it was diagnosed principally on the basis of genetic information.

Overview Summary

Health plans—health insurers, including employer-sponsored group health plans that provide or pay for the cost of medical care, with the exception of long-term care insurance plans—may not use genetic information to determine eligibility, to set the cost of premiums, or to exclude a preexisting condition. A health plan may, however, use genetic information in determining the medical appropriateness of the treatment for which a policyholder is seeking benefits.

Genetic information consists of an individual's family medical history; information about genetic tests; genetic counseling; and genetic education requested or received by an individual, any of the individual's relatives (by blood or by marriage) and any other person eligible for coverage under the individual's group health plan.

Health plans may not use information about a disease or disorder that has been diagnosed principally on the basis of genetic information. Health plans may, however, use information about a disease or disorder that was diagnosed on the basis of a physical examination, even if the diagnosis was confirmed by genetic tests. Similarly, an analysis of proteins or metabolites that is directly related to a disease or disorder that was diagnosed on the basis of a physical examination is not a genetic test.

For Further Information

If you have any questions about this Alert or would like further information, please contact Harry R. Silver, Lisa W. Clark, any other member of the Health Law Practice Group or the attorney in the firm with whom you are regularly in contact.

Disclaimer: This Alert has been prepared and published for informational purposes only and is not offered, nor should be construed, as legal advice. For more information, please see the firm's full disclaimer.

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